E. Siintola's Profile

Role	Title	Level	Year	L/R
🦁	Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. 8 auth. E. Siintola, S. Partanen, P. Strömme, A. Haapanen, M. Haltia, J. Maehlen, ... A. Lehesjoki, J. Tyynelä	8	2006	8 🦁
🦁	The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 11 auth. E. Siintola, M. Topçu, N. Aula, H. Lohi, B. Minassian, A. Paterson, ... Xiao-qing Liu, Callum Wilson, U. Lahtinen, A. Anttonen, A. Lehesjoki	7	2007	7 🦁
🐜	Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 12 auth. M. Kousi, E. Siintola, L. Dvořáková, H. Vlášková, J. Turnbull, M. Topçu, ... D. Yuksel, S. Gokben, B. Minassian, M. Elleder, S. Mole, A. Lehesjoki	6	2009	6 🐜
🦁	Molecular genetics of the NCLs -- status and perspectives. E. Siintola, A. Lehesjoki, S. Mole	6	2006	6 🦁
🐜	Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10) 13 auth. K. Fritchie, E. Siintola, D. Armao, A. Lehesjoki, Thomas Marino, C. Powell, M. Tennison, Jessica M. Booker, Sabine Koch, S. Partanen, ... Kinuko Suzuki, J. Tyynelä, L. Thorne	6	2008	6 🐜
🐬	Localization of wild‐type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non‐neuronal and neuronal cells Liina Lonka, T. Salonen, E. Siintola, O. Kopra, A. Lehesjoki, A. Jalanko	5	2004	5 🐬
🐜	Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome 10 auth. A. Anttonen, E. Siintola, L. Tranebjaerg, N. Iwata, E. Bijlsma, H. Meguro, ... Y. Ichikawa, J. Goto, O. Kopra, A. Lehesjoki	5	2008	5 🐜
🦁	Two novel CLN6 mutations in variant late‐infantile neuronal ceroid lipofuscinosis patients of Turkish origin 7 auth. E. Siintola, M. Topçu, A. Kohlschütter, T. Salonen, T. Joensuu, A. Anttonen, ... A. Lehesjoki	5	2005	5 🦁
🐜	ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss 22 auth. A. Anttonen, Anni Laari, M. Kousi, Yawei J. Yang, T. Jääskeläinen, M. Somer, E. Siintola, E. Jakkula, M. Muona, Saara Tegelberg, ... T. Lönnqvist, H. Pihko, L. Valanne, A. Paetau, Melody P. Lun, J. Hästbacka, O. Kopra, T. Joensuu, N. Katsanis, Maria K. Lehtinen, J. Palvimo, A. Lehesjoki	4	2017	4 🐜
🐜	Chapter 12: CLN8 11 auth. C. Aiello, Natalia Cannelli, Jonathan Cooper, M. Haltia, R. Herva, U. Lahtinen, ... A. Lehesjoki, S. Mole, F. Santorelli, E. Siintola, A. Simonati	0	2011	0 🐜